diaphyseal dysplasia

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Camurati-Engelmann disease

A rare autosomal dominant disorder (OMIM:131300) characterised by hyperostosis and sclerosis of the diaphyses of long bones, which usually presents in early childhood with pain, muscular weakness and waddling gait, variably accompanied by exophthalmos, facial paralysis, hearing loss and loss of vision.
Molecular pathology
Caued by defects of TGFB1, which encodes a transforming growth factor beta-type cytokine that up- and downregulates proliferation, differentiation, adhesion, migration, apoptosis and other functions.
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